If you are a doctor or other qualified health care professional, you should not offer any medical advice or treatment on our Sites, nor should you allow the content of our Sites to substitute for your own medical judgment. Please thoroughly review the information provided on our Sites before deciding whether any of the products, services, or treatments therein are right for you or others.

have a question, issue or just some feedback for us? we're here for you.

what can we help you with?

let us know how we can help

enter the code to confirm you're not a robot

DISCLAIMER

The information and materials accessed through or made available for use on any of our Sites, including, any information about diseases, conditions, treatments, or medicines, are for informational purposes only. The Content is not intended to be and is not a substitute for professional medical advice, diagnosis, or treatment, and your participation on our Sites does not create a healthcare professional-patient relationship. You should consult a doctor or other qualified health care professional regarding any questions you have about your health or before making any decisions related to your health or wellness. Call your doctor or 911 immediately if you think you may have a medical emergency.

Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that will enroll boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study will evaluate the safety and tolerability of ataluren (PTC124) and will also evaluate efficacy outcomes in this patient population.

intervention:
Ataluren (PTC124)

mechanism of action:
Stop codon read through to promote dystrophin production

results:
https://clinicaltrials.gov/ct2/show/results/NCT01009294

last updated: April 27, 2019

study details

start date: November 30, 2009

estimated completion: March 31, 2010

phase of development:
Phase 2

size / enrollment: 6

study description:
It is planned that this Phase 2a, open-label, safety and efficacy study will be performed at 5 sites in the US and 1 site in the UK.
The study will enroll ~30 boys with nonsense mutation DMD/BMD who have been non-ambulatory for at least one year. Enrollment will be stratified to ensure evaluation of ~15 participants who are receiving chronic corticosteroid therapy and of ~15 participants who are not receiving chronic corticosteroid therapy. Subjects will take ataluren 3 times per day (at breakfast, lunch, and dinner) for 48 weeks (~1 year). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing is required 4 times during the course of the study; this may be performed at the investigational site, at an accredited local laboratory or clinic, or in the subject's home using a nursing service.

exclusion criteria:
• Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start of study treatment
• Use of any intermittent systemic corticosteroid therapy regimen (eg, 10 days on followed by 10 days off, weekend dosing, every-other-day dosing); note that patients must either be receiving a daily dosing regimen of prednisone, prednisolone, or deflazacort at the time of enrollment into the study or must not be receiving any systemic corticosteroids
• Any change in treatment for congestive heart failure within 3 months prior to start of study treatment
• Ongoing warfarin or phenytoin therapy
• Prior therapy with ataluren
• Known hypersensitivity to any of the ingredients or excipients of ataluren (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127 [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab O Sil® M5P [colloidal silica], magnesium stearate).
• Exposure to another investigational drug within 2 months prior to start of study treatment
• History of major surgical procedure within 1 month prior to start of study treatment or expectation of major surgical procedure (eg, scoliosis surgery) during the 48-week treatment period of the study
• Ongoing immunosuppressive therapy (other than corticosteroids)
• Ongoing participation in any other clinical trial
• Requirement for daytime ventilator assistance
• Uncontrolled clinical symptoms and signs of congestive heart failure
• Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study results.